Galactosemia Nursing Care Planning and Management

Galactosemia is an inherited metabolic disorder where the body cannot break down galactose, the sugar in milk and dairy. A missing enzyme blocks the conversion of galactose to glucose, and toxic byproducts pile up. It can be life-threatening in the newborn period, so the catch is fast: most cases turn up on newborn screening, and the fix is absolute, pull every source of galactose including breast milk and standard formula. Watch for vomiting, jaundice, poor feeding, and developmental delay.

What is Galactosemia?

Hereditary galactosemia is among the most common carbohydrate metabolism disorders. It is a recessive disorder in which the enzyme that converts galactose to glucose is missing. First described in a variant patient in 1935 by Mason and Turner, galactose-1-phosphate uridyltransferase (GALT) deficiency is the most common enzyme deficiency causing hypergalactosemia. Removing lactose largely eliminates the newborn toxicity, but long-term complications still occur routinely, as reported by Komrower and Lee in 1970 and delineated in a 1990 retrospective survey by Waggoner and associates.

Pathophysiology

Hypergalactosemia is tied to 3 enzyme deficiencies. Galactokinase converts galactose to galactose-1-phosphate and is an uncommon deficiency. Uridine diphosphate (UDP) galactose-4-epimerase epimerizes UDP galactose to UDP glucose and is also uncommon. GALT, the cause of hereditary galactosemia, is the most common deficiency; it catalyzes the conversion of galactose-1-phosphate and UDP glucose to UDP galactose and glucose-1-phosphate. People with GALT deficiency show abnormal galactose tolerance.

Statistics and Incidences

Incidence is about 1 case per 40,000-60,000 persons. Rates vary widely (1 case in 70,000 in the UK, but 1 case in 16,476 in Ireland), and the disorder is thought to be much less common in Asians. Most patients reach adulthood once a galactose-restricted diet is started. It occurs in all races, with variants based on the exact gene defect, and affects males and females equally. It is most often diagnosed in infancy by newborn screening, since all states screen for it.

Clinical Manifestations

Untreated infants with severely deficient GALT activity present with variable findings:

• Poor growth within the first few weeks of life.
• Jaundice, yellowing of the skin from hyperbilirubinemia.
• Bleeding from coagulopathy.
• Feeding difficulties with vomiting and diarrhea severe enough to cause dehydration and weight loss; these plus jaundice are the primary manifestations.
• Cataracts, unless milk is withheld early.
• Liver and spleen damage, leading to hepatomegaly and splenomegaly.

Assessment and Diagnostic Findings

• Beutler test, a screening test for the disorder.
• Newborn screening. A positive (abnormal) screen must be followed by quantitative erythrocyte GALT analysis at a lab that routinely does biochemical genetic testing and consultation.
• GALT isoelectric-focusing electrophoresis helps distinguish variant forms such as the Duarte defect.
• GALT genotyping can give a specific molecular diagnosis; the most common GALT allele in Caucasians is the Q188R mutation, while the S135L mutation is common in native South Africans and in African Americans.

Medical Management

The mainstay of postnatal care is to immediately stop lactose-containing formula.

• Transfusions. Clotting abnormalities may be cryptic and require fresh frozen plasma.
• Diet. Prescribe a galactose-restricted diet; milk substitutes such as Nutramigen and Pregestimil provide galactose-free nutrition.

Pharmacologic Management

Drug therapy is not currently part of the standard of care.

Nursing Management

Nursing care centers on what the child takes in.

Nursing Assessment

• Physical examination. Assess presenting symptoms, especially after galactose ingestion.
• Nutritional intake. Assess dietary needs and the caregivers' understanding of the disorder to set a strict diet.

Nursing Diagnosis

• Altered nutrition: less than body requirements related to a restrictive diet.
• Ineffective breastfeeding related to galactose intolerance.
• Diarrhea related to ingestion of a galactose-containing substance.

Nursing Care Planning and Goals

• Caregivers identify appropriate food for the infant.
• Caregivers provide galactose-free milk as a substitute for breast milk.
• Caregivers understand the disease process and the care of a newborn with galactosemia.

Nursing Interventions

• Milk substitution. Substitute a soy-based or meat-based formula, Nutramigen, or another galactose-free formula.
• Dietary restrictions. Infants must stay on a restricted diet and keep low blood galactose levels for life.
• Read food labels. Check all processed foods carefully for milk-product ingredients.
• Client education. Gauge the caregivers' understanding and give complete information on the disorder.

Evaluation

Goals are met when caregivers identify appropriate food, provide galactose-free milk in place of breast milk, and understand the disease process and care of the newborn.

Documentation Guidelines

• Individual findings, contributing factors, interactions, the nature of social exchanges, and specifics of behavior.
• Intake and output.
• Characteristics of stool and vomitus.
• Cultural and religious beliefs and expectations.
• Plan of care and teaching plan.
• Responses to interventions, teaching, and actions performed.
• Attainment of or progress toward the desired outcome.